TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

[1]  P. Hainaut,et al.  TP53p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient , 2013, BMC Cancer.

[2]  J. Zhuang,et al.  p53: exercise capacity and metabolism , 2012, Current opinion in oncology.

[3]  A. W. van der Vaart,et al.  CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women , 2011, Journal of Medical Genetics.

[4]  T. Takken,et al.  Normal values for cardiopulmonary exercise testing in children , 2011, European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology.

[5]  J. Beyene,et al.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. , 2011, The Lancet. Oncology.

[6]  T. Takken,et al.  Normal values for cardiopulmonary exercise testing in children , 2011, European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology.

[7]  Ø. Olsen,et al.  High signal in bone marrow at diffusion-weighted imaging with body background suppression (DWIBS) in healthy children , 2011, Pediatric Radiology.

[8]  M. Olivier,et al.  Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect , 2010, Human mutation.

[9]  Robert S. Balaban,et al.  p53 Improves Aerobic Exercise Capacity and Augments Skeletal Muscle Mitochondrial DNA Content , 2009, Circulation research.

[10]  A. C. Silva,et al.  Inspiratory resistive loading after all-out exercise improves subsequent performance , 2009, European Journal of Applied Physiology.

[11]  S. Shurtleff,et al.  Association of the germline TP53 R337H mutation with breast cancer in southern Brazil , 2008, BMC Cancer.

[12]  M. Olivier,et al.  Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. , 2008, Cancer letters.

[13]  S. Bojesen,et al.  CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[14]  M. Olivier,et al.  The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. , 2007, Cancer letters.

[15]  Oksana Gavrilova,et al.  p53 Regulates Mitochondrial Respiration , 2006, Science.

[16]  N. Armstrong,et al.  Reliability of peak $$\dot V{\text{O}}_2 $$ and maximal cardiac output assessed using thoracic bioimpedance in children , 2005, European Journal of Applied Physiology.

[17]  E. Pinto,et al.  Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. , 2004, Arquivos brasileiros de endocrinologia e metabologia.

[18]  T. Takahara,et al.  Diffusion weighted whole body imaging with background body signal suppression (DWIBS): technical improvement using free breathing, STIR and high resolution 3D display. , 2004, Radiation medicine.

[19]  V. Donoghue,et al.  Whole-body magnetic resonance imaging: a useful additional sequence in paediatric imaging , 2004, Pediatric Radiology.

[20]  P. Pharoah,et al.  Prediction of pathogenic mutations in patients with early-onset breast cancer by family history , 2003, The Lancet.

[21]  K. Matthews,et al.  p53 unfolding detected by CD but not by tryptophan fluorescence. , 2001, Biochemical and biophysical research communications.

[22]  E. Pinto,et al.  An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. , 2001, The Journal of clinical endocrinology and metabolism.

[23]  J. Varley,et al.  Relative frequency and morphology of cancers in carriers of germline TP53 mutations , 2001, Oncogene.

[24]  W. Blattner,et al.  Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome , 1990, Nature.

[25]  L. Strong,et al.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. , 1990, Science.

[26]  E. Coyle,et al.  Exercise hyperventilation in patients with McArdle's disease. , 1982, Journal of applied physiology: respiratory, environmental and exercise physiology.

[27]  R T Withers,et al.  Muscle respiratory capacity and fiber type as determinants of the lactate threshold. , 1980, Journal of applied physiology: respiratory, environmental and exercise physiology.

[28]  C. Mathers,et al.  GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 11 [Internet]. Lyon, France: International Agency for Research on Cancer , 2013 .

[29]  D. Bercovich,et al.  Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I , 2008, Familial Cancer.

[30]  S. Boué,et al.  Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1 , 2008, European Journal of Human Genetics.

[31]  J. Garber,et al.  Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. , 2006, Gastroenterology.

[32]  N. Armstrong,et al.  Reliability of peak VO(2) and maximal cardiac output assessed using thoracic bioimpedance in children. , 2005, European journal of applied physiology.

[33]  P. Hainaut.  Tumor-specific mutations in p53: The acid test , 2002, Nature Medicine.

[34]  W. Mcdougal.  An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. , 2002, The Journal of urology.

[35]  R. Ribeiro,et al.  A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer , 2002, Nature Structural Biology.